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ACTL7A actin like 7A [ Homo sapiens (human) ]

Gene ID: 10881, updated on 17-Jun-2019

Summary

Official Symbol
ACTL7Aprovided by HGNC
Official Full Name
actin like 7Aprovided by HGNC
Primary source
HGNC:HGNC:161
See related
Ensembl:ENSG00000187003 MIM:604303
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See ACTL7A in Genome Data Viewer
Location:
9q31.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (108862266..108863756)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (111624603..111626035)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATP synthase membrane subunit f pseudogene Neighboring gene actin like 7B Neighboring gene elongator complex protein 1 Neighboring gene actin binding transcription modulator Neighboring gene catenin alpha like 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
actin-like protein 7A
Names
actin-like 7-alpha
testicular secretory protein Li 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006687.4NP_006678.1  actin-like protein 7A

    See identical proteins and their annotated locations for NP_006678.1

    Status: REVIEWED

    Source sequence(s)
    AL359692, BC014610, HY010941, HY195619
    Consensus CDS
    CCDS6772.1
    UniProtKB/Swiss-Prot
    Q9Y615
    UniProtKB/TrEMBL
    A0A140VK03
    Related
    ENSP00000334300.3, ENST00000333999.4
    Conserved Domains (3) summary
    smart00268
    Location:69435
    ACTIN; Actin
    pfam16840
    Location:165
    ACTL7A_N; Actin-like protein 7A N-terminus
    cl17037
    Location:67435
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    108862266..108863756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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